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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MOCS1
(R252Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
+1 more
GConflicting classifications of pathogenicity
MOCS1
(R185W +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity